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Genetic testing in women with early-onset breast cancer: a Traceback pilot study
PURPOSE: In Sweden, a Traceback approach, i.e., a retrospective genetic outreach activity, among cancer patients is not normally used in clinical practice. In this pilot study, we wanted to evaluate a Traceback strategy for possible future clinical implementation and investigate why not all women wi...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer US
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8443966/ https://www.ncbi.nlm.nih.gov/pubmed/34529195 http://dx.doi.org/10.1007/s10549-021-06351-z |
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author | Augustinsson, Annelie Nilsson, Martin P. Ellberg, Carolina Kristoffersson, Ulf Olsson, Håkan Ehrencrona, Hans |
author_facet | Augustinsson, Annelie Nilsson, Martin P. Ellberg, Carolina Kristoffersson, Ulf Olsson, Håkan Ehrencrona, Hans |
author_sort | Augustinsson, Annelie |
collection | PubMed |
description | PURPOSE: In Sweden, a Traceback approach, i.e., a retrospective genetic outreach activity, among cancer patients is not normally used in clinical practice. In this pilot study, we wanted to evaluate a Traceback strategy for possible future clinical implementation and investigate why not all women with early-onset breast cancer underwent genetic testing when they were first diagnosed. METHODS: Out of all women (n = 409) diagnosed with breast cancer at ≤ 35 years in Southern Sweden between 2000 and 2017, 63 had not previously been tested. These women were offered an analysis of the genes BRCA1, BRCA2, PALB2, CHEK2, and ATM through a standardized letter. Subsequently, women with normal test results were informed through a letter and carriers of pathogenic variants were contacted through a telephone call and offered in-person genetic counseling. All tested women were asked to complete a follow-up questionnaire regarding previously not having attended genetic counseling and testing and their experiences of the current retrospective approach. RESULTS: Out of the invited women, 29 (46%) underwent genetic testing and 27 (43%) answered the questionnaire. Pathogenic variants were identified in BRCA1 (n = 2), CHEK2 (n = 1), and ATM (n = 1). The main reason for previously not having undergone genetic testing was not having received any information from their physicians. Most study participants were satisfied with both written pre- and post-test information. CONCLUSION: The process with retrospective identification, written pre-test information, and genetic testing, followed by in-person counseling for carriers of pathogenic variants only, was well accepted. This has implications for future Traceback implementation programs. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s10549-021-06351-z. |
format | Online Article Text |
id | pubmed-8443966 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Springer US |
record_format | MEDLINE/PubMed |
spelling | pubmed-84439662021-09-16 Genetic testing in women with early-onset breast cancer: a Traceback pilot study Augustinsson, Annelie Nilsson, Martin P. Ellberg, Carolina Kristoffersson, Ulf Olsson, Håkan Ehrencrona, Hans Breast Cancer Res Treat Clinical Trial PURPOSE: In Sweden, a Traceback approach, i.e., a retrospective genetic outreach activity, among cancer patients is not normally used in clinical practice. In this pilot study, we wanted to evaluate a Traceback strategy for possible future clinical implementation and investigate why not all women with early-onset breast cancer underwent genetic testing when they were first diagnosed. METHODS: Out of all women (n = 409) diagnosed with breast cancer at ≤ 35 years in Southern Sweden between 2000 and 2017, 63 had not previously been tested. These women were offered an analysis of the genes BRCA1, BRCA2, PALB2, CHEK2, and ATM through a standardized letter. Subsequently, women with normal test results were informed through a letter and carriers of pathogenic variants were contacted through a telephone call and offered in-person genetic counseling. All tested women were asked to complete a follow-up questionnaire regarding previously not having attended genetic counseling and testing and their experiences of the current retrospective approach. RESULTS: Out of the invited women, 29 (46%) underwent genetic testing and 27 (43%) answered the questionnaire. Pathogenic variants were identified in BRCA1 (n = 2), CHEK2 (n = 1), and ATM (n = 1). The main reason for previously not having undergone genetic testing was not having received any information from their physicians. Most study participants were satisfied with both written pre- and post-test information. CONCLUSION: The process with retrospective identification, written pre-test information, and genetic testing, followed by in-person counseling for carriers of pathogenic variants only, was well accepted. This has implications for future Traceback implementation programs. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s10549-021-06351-z. Springer US 2021-09-16 2021 /pmc/articles/PMC8443966/ /pubmed/34529195 http://dx.doi.org/10.1007/s10549-021-06351-z Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
spellingShingle | Clinical Trial Augustinsson, Annelie Nilsson, Martin P. Ellberg, Carolina Kristoffersson, Ulf Olsson, Håkan Ehrencrona, Hans Genetic testing in women with early-onset breast cancer: a Traceback pilot study |
title | Genetic testing in women with early-onset breast cancer: a Traceback pilot study |
title_full | Genetic testing in women with early-onset breast cancer: a Traceback pilot study |
title_fullStr | Genetic testing in women with early-onset breast cancer: a Traceback pilot study |
title_full_unstemmed | Genetic testing in women with early-onset breast cancer: a Traceback pilot study |
title_short | Genetic testing in women with early-onset breast cancer: a Traceback pilot study |
title_sort | genetic testing in women with early-onset breast cancer: a traceback pilot study |
topic | Clinical Trial |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8443966/ https://www.ncbi.nlm.nih.gov/pubmed/34529195 http://dx.doi.org/10.1007/s10549-021-06351-z |
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